I28V (p.Ile28Val) variant of NFE2L2 (Q16236)
I28V (p.Ile28Val) in NFE2L2 (Q16236) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data.
I28V (p.Ile28Val) variant details
- p.Ile28Val
- gnomAD rs1441199966
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.10
- CADD 21.10
- PolyPhen-2 0.23
- SIFT 0.07
- Most common in the South Asian population (allele frequency 1.2e-05)